Diseases

Name Orphanumber Description XREF(s)
Precursor T-cell acute lymphoblastic leukemia 99861 A rare acute lymphoblastic leukemia… Orphanet, ICD-10
Precursor B-cell acute lymphoblastic leukemia 99860 A rare acute lymphoblastic leukemia… Orphanet, ICD-10, OMIM, ICD-10
Cree leukoencephalopathy 99854 Orphanet, OMIM, ICD-10
Ovarioleukodystrophy 99853 Orphanet, OMIM, OMIM, ICD-10
Ravine syndrome 99852 Ravine syndrome is an extremely rare… Orphanet, ICD-10
Glycogen storage disease due to muscle beta-enolase deficiency 99849 A rare glycolysis disorder… Orphanet, ICD-10, OMIM
Genetic recurrent myoglobinuria 99845 Genetic recurrent myoglobinuria is an… Orphanet, ICD-10, OMIM, OMIM
Leukocyte adhesion deficiency type III 99844 Leukocyte adhesion deficiency type III… Orphanet, ICD-10, OMIM
Leukocyte adhesion deficiency type II 99843 Leukocyte adhesion deficiency type II (… Orphanet, ICD-10, OMIM
Leukocyte adhesion deficiency type I 99842 Leukocyte adhesion deficiency type I (… Orphanet, ICD-10, OMIM, MeSH
Resistance to thyrotropin-releasing hormone syndrome 99832 Resistance to thyrotropin-releasing… Orphanet, OMIM, ICD-10
Familial gestational hyperthyroidism 99819 A rare genetic hyperthyroidism… Orphanet, ICD-10, ICD-10, MeSH, OMIM
Turcot syndrome with polyposis 99818 Turcot syndrome with polyposis or… OMIM
Turcot syndrome with polyposis 99818 Turcot syndrome with polyposis or… Orphanet, OMIM, ICD-10
LIG4 syndrome 99812 LIG4 syndrome is a hereditary disorder… Orphanet, OMIM, ICD-10
Neuronal intestinal pseudoobstruction 99811 Neuronal intestinal pseudoobstruction… Orphanet, ICD-10, MeSH, OMIM
Familial porencephaly 99810 Orphanet, MeSH, ICD-10, OMIM, OMIM
PEHO-like syndrome 99807 PEHO-like syndrome is a rare, genetic… Orphanet, OMIM, ICD-10, OMIM
Oculootodental syndrome 99806 A contiguous gene syndrome comprising… Orphanet, ICD-10, OMIM
Haddad syndrome 99803 Haddad syndrome is a rare congenital… Orphanet, ICD-10, MeSH, OMIM
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